Layer two
Diagnosis-led treatment
A separate category from both rehabilitation and the treatments sold to families. These are real, licensed, disease-modifying medicines — and every one of them depends on knowing the exact genetic cause first.
If you are weighing an expensive course abroad, the test that might reveal a licensed treatment costs a fraction of it and is far more likely to change what happens to your child. Do that first.
Getting a precise diagnosis
For a family weighing expensive treatments abroad, this is almost always the better place to spend the money first. A name can unlock a licensed medicine — or rule one out.
Exome and genome sequencing, panels, metabolic work-up, MRI
Established careGene-targeted treatments
The genuinely transformative development in paediatric neurology — and it is strictly conditional: these treatments work for named genetic diagnoses and do nothing at all without one.
Antisense oligonucleotides, gene replacement, enzyme replacement, targeted small molecules